Variant report

Variant	rs6486289
Chromosome Location	chr11:16429573-16429574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16428545..16430895-chr11:16628105..16630228,2	K562	blood:
2	chr11:16428430..16430203-chr11:16538247..16541152,2	K562	blood:
3	chr11:16421221..16424057-chr11:16428605..16430186,2	K562	blood:
4	chr11:16415811..16418306-chr11:16427496..16429651,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10466381	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10732463	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734242	1.00[AMR][1000 genomes]
rs10734243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10734246	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10741697	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1123186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1393925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1393929	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466927	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503445	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1503451	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2062813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2134611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352237	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297323	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297336	0.93[AFR][1000 genomes]
rs4757396	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60970479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104395	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116645	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934582	1.00[AMR][1000 genomes]
rs7935139	1.00[AMR][1000 genomes]
rs7945381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs959966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967424	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16417200-16434200	Weak transcription	Psoas Muscle	Psoas
2	chr11:16427200-16429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:16427400-16435400	Weak transcription	Brain Germinal Matrix	brain
4	chr11:16427400-16438800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:16427600-16440000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:16428000-16438600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:16428400-16434200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:16428600-16430800	Enhancers	K562	blood
9	chr11:16428800-16430200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:16429400-16439200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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